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Results 1 - 8 of 8 for Spinocerebellar ataxia type 23
  1. ... ATAXIA 6; SCA6 PubMed Casey HL, Gomez CM. Spinocerebellar Ataxia Type 6. 1998 Oct 23 [updated 2019 Nov 21]. In: Adam MP, Feldman ...
  2. ... BP, Bauer P, Schols L. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 2008 Nov 15;23(15):2232-8. doi: 10.1002/mds.22288. Citation on PubMed Kang S, Hong S. Molecular pathogenesis of spinocerebellar ataxia type 1 disease. Mol Cells. 2009 Jun 30;27( ...
  3. ... Beauce Genetic Testing Registry: Autosomal recessive ... Beaudin M, Gamache PL, Gros-Louis F, Dupre N. SYNE1 Deficiency. 2007 Feb 23 [updated 2018 Dec 6]. In: Adam MP, Feldman ...
  4. ... with ocular motor apraxia and hypoalbuminemia SCAN2 SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 ...
  5. ... gene are responsible for HDL4 (also known as spinocerebellar ataxia type 17). The genetic cause of HDL3 is unknown. ... Registry: Huntington disease-like 2 Genetic Testing Registry: Spinocerebellar ataxia type 17 Disease InfoSearch National Organization for Rare Disorders ( ...
  6. ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by CACNA1A ...
  7. ... Testing Registry: Infantile onset spinocerebellar ataxia Infantile onset spinocerebellar ataxia ... Finsterer J. Ataxias with autosomal, X- ...
  8. ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub ...